用PCR-RFLP检测血红蛋白E基因CD26突变  

Method for detection of gene mutation of hemoglobin E in population of Sichuan area

作　　者：陈建[1] 罗比[1] 漆著[1] 霍沛丹[1] 

机构地区：[1]四川生殖卫生学院基础部,成都610041

出　　处：《临床检验杂志》2007年第5期344-345,共2页Chinese Journal of Clinical Laboratory Science

摘　　要：目的建立PCR-RFLP(限制性片段长度多态性)法检测血红蛋白E(HbE)基因CD26突变。方法对HbE复合β地中海贫血(β地贫)家系的患者基因组DNA进行PCR扩增,扩增产物经限制性内切酶MnlⅠ消化,通过分析酶切产物PAGE图谱确定是否携带CD26突变。结果筛选出2个家系中4例CD26突变携带者。结论CD26突变在四川人群中有一定的频率,PCR-RFLP方法能快速、准确、特异地检测CD26突变。Objective To establish a PCR-RFLP method for detection of CD26 mutation of hemoglobin E （HbE） gene. Methods The genome DNA from the family members who were suspected of having HbE combined with beta-thalassemia was amplified using PCR. The PCR products were digested by restriction endonuclease Mnl Ⅰ, and then separated on PAGE. The electrophoretical patterns were finally analyzed to confirm if CD26 mutation was present or not. Results Four cases with CD26 mutation in two families were successfully screened out. Conclusion Although the incident frequency of CD26 mutation in Sichuan population is not high, it must not be neglected since it may present alone or combined with other type of thalassemia. PCR-RFLP method described in this study is available in screening mutated HbE gene and treating the disease owing to its simplicity, rapidity and specificity.

关 键 词：血红蛋白E Β地中海贫血 基因 限制性片段长度多态性 

分 类 号：R556.7[医药卫生—血液循环系统疾病]